Hirschsprung's disease

Hirschsprung's disease (HD), also known as congenital aganglionic megacolon, is a medical condition characterized by the absence of ganglion cells in the intestinal wall, which results in a blockage of the large intestine due to improper muscle contraction. This condition is congenital, meaning it is present at birth, and it significantly affects the colon's ability to move stool through the intestine. The disease is named after Harald Hirschsprung, the Danish physician who first described the condition in 1886.

Causes and Genetics[edit | edit source]

Hirschsprung's disease is primarily caused by a mutation in one of several genes involved in the development of the enteric nervous system, including the RET proto-oncogene. These genetic mutations lead to the absence of ganglion cells in the distal bowel. The condition is typically inherited in an autosomal dominant pattern, but can also occur sporadically, without a family history.

Symptoms[edit | edit source]

Symptoms of Hirschsprung's disease usually appear in newborns and may include:

Failure to pass meconium within the first 48 hours after birth
Chronic constipation
Abdominal swelling
Vomiting
Poor feeding and growth
Diarrhea and enterocolitis in severe cases

Diagnosis[edit | edit source]

Diagnosis of Hirschsprung's disease involves a combination of clinical evaluation and diagnostic tests, including:

Anorectal manometry
Barium enema
Rectal biopsy, which is the definitive test for diagnosing the absence of ganglion cells

Treatment[edit | edit source]

The primary treatment for Hirschsprung's disease is surgical removal of the affected segment of the colon. The most common surgical procedures include:

The Swenson procedure
The Soave procedure
The Duhamel procedure
The Transanal endorectal pull-through (TEPT)

Post-surgery, patients may still experience issues such as constipation or incontinence, but these can often be managed with medical and behavioral therapies.

Prognosis[edit | edit source]

With proper treatment, the prognosis for individuals with Hirschsprung's disease is generally good. Early diagnosis and treatment are crucial to prevent serious complications such as enterocolitis, which can be life-threatening.

Epidemiology[edit | edit source]

Hirschsprung's disease affects approximately 1 in 5,000 live births and is more common in males than in females. It is also more frequently observed in individuals with certain genetic conditions, such as Down syndrome.